Disease ID | Disease name | Source of annotation with GALE | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
230350 | GALACTOSE EPIMERASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GALE |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Galactose metabolism | hsa00052 | 7.72 |
Amino sugar and nucleotide sugar metabolism | hsa00520 | 7.15 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Defective GALE can cause Epimerase-deficiency galactosemia (EDG) | R-HSA-5609977 | 12.98 |
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Diseases associated with glycosylation precursor biosynthesis | R-HSA-5609975 | 9.08 |
Metabolism | R-HSA-1430728 | 2.34 |
Diseases of glycosylation | R-HSA-3781865 | 6.89 |
Galactose catabolism | R-HSA-70370 | 10.66 |
Disease | R-HSA-1643685 | 3.33 |
GO term | GO ID | GO IC |
---|---|---|
racemase and epimerase activity, acting on carbohydrates and derivatives | GO:0016857 | 7.44 |
racemase and epimerase activity | GO:0016854 | 6.97 |
isomerase activity | GO:0016853 | 4.62 |
coenzyme binding | GO:0050662 | 4.53 |
catalytic activity | GO:0003824 | 1.05 |
cofactor binding | GO:0048037 | 4.16 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
UDP-N-acetylglucosamine 4-epimerase activity | GO:0003974 | 9.74 |
protein dimerization activity | GO:0046983 | 2.72 |
UDP-glucose 4-epimerase activity | GO:0003978 | 9.74 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |